Combined immunodeficiencies

D3_COMBIMMUDEF

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 D81
  • Cause of death: ICD-10 D81

2 out of 7 registries used, show all original rules.

-

4. Check minimum number of events

None

-

5. Include endpoints

435

6. Filter based on genotype QC (FinnGen only)

383

Control definitions (FinnGen only)

Control exclude
D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D80-D89
Name in latin
Deficientiae immunales mixtae

Similar endpoints

List of similar endpoints to Combined immunodeficiencies based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3113 1722 1368
Only index persons 2640 1511 1129
Unadjusted period prevalence (%)
Whole population 0.04 0.05 0.04
Only index persons 0.05 0.06 0.04
Median age at first event (years)
Whole population 56.62 54.81 58.78
Only index persons 54.63 53.01 56.80

-FinnGen-

Key figures

All Female Male
Number of individuals 383 233 150
Unadjusted period prevalence (%) 0.08 0.08 0.07
Median age at first event (years) 53.87 49.26 61.04

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
401
Matched controls
4010
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D81.4
ICD-10 Finland
Nezelof syndrome
+∞
171.5
152
*
D81.0
ICD-10 Finland
Severe combined immunodeficiency [SCID] with reticular dysgenesis
+∞
120.0
109
*
T81.4
ICD-10 Finland
Infection following a procedure, not elsewhere classified
9.6
101.9
155
246
Y83
ICD-10 Finland
Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
10.3
89.1
118
156
D81.8
ICD-10 Finland
Other combined immunodeficiencies
+∞
53.3
50
*
T81.0
ICD-10 Finland
Haemorrhage and haematoma complicating a procedure, not elsewhere classified
6.5
40.7
74
134
ZXD05
NOMESCO Finland
Urgent procedure
3.8
38.5
198
816
D81.9
ICD-10 Finland
Combined immunodeficiency, unspecified
+∞
38.1
36
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
6.2
31.6
59
109
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.3
23.6
110
407
D81.2
ICD-10 Finland
Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
+∞
23.1
22
*
ZXE20
NOMESCO Finland
More than three and less than five hours
3.5
23.1
96
330
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
22.1
21
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.7
21.8
199
1058
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.5
21.6
88
298
WX408
NOMESCO Finland
General anesthesy, balanced
2.9
21.6
151
700
D81.1
ICD-10 Finland
Severe combined immunodeficiency [SCID] with low T- and B-cell numbers
+∞
21.0
20
*
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
6.2
20.6
37
65
J01MA12
ATC
levofloxacin; systemic
3.1
20.5
110
439
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.7
19.2
161
809
T81.8
ICD-10 Finland
Other complications of procedures, not elsewhere classified
8.1
18.9
26
34
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
18.9
18
*
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
4.8
18.8
45
103
T81.3
ICD-10 Finland
Disruption of operation wound, not elsewhere classified
7.9
18.4
26
35
Z3226
NOMESCO Finland
Physiotherapist
2.9
18.1
112
480
L04AX01
ATC
azathioprine; systemic
6.1
17.9
32
56
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.0
17.9
97
387
J01FF01
ATC
clindamycin; systemic
2.6
17.4
142
698
N02AX02
ATC
tramadol; systemic, rectal
2.4
17.2
214
1277
JN3BD
NOMESCO Finland
Extensive abdominal CT
3.5
16.9
65
210
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.4
16.8
228
1411
C03CA01
ATC
furosemide; systemic
2.4
16.2
163
879
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.6
15.8
116
539
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
15.7
15
*
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
6.6
15.7
26
42
A49.9
ICD-10 Finland
Bacterial infection, unspecified
3.1
15.2
70
253
UJF32
NOMESCO Finland
Coloscopy
2.5
15.0
130
651
TPH04
NOMESCO Finland
Cathetrisation of vein
2.5
14.4
117
567
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
3.8
14.4
47
136
QX2XE
NOMESCO Finland
Ultrsound examination of soft tissue not elsewhere classified
6.0
14.3
26
46
P01AB01
ATC
metronidazole; oral, rectal
2.3
14.2
196
1193
ZXD10
NOMESCO Finland
Scheduled procedure
2.3
14.2
184
1092
J01MA02
ATC
ciprofloxacin; systemic
2.2
13.9
186
1115
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
3.1
13.4
63
229
ZXE30
NOMESCO Finland
More than five and less than seven hours
4.3
13.4
36
90
R50.9
ICD-10 Finland
Fever, unspecified
2.7
13.3
85
365
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
2.5
13.3
98
452
X59
ICD-10 Finland
Exposure to unspecified factor
2.5
13.0
100
470
Z3231
NOMESCO Finland
Registered nurse
2.3
12.6
139
764
D81.3
ICD-10 Finland
Adenosine deaminase [ADA] deficiency
+∞
12.6
12
*
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
+∞
12.6
12
*
Z01.8
ICD-10 Finland
Other specified special examinations
2.4
12.4
112
566
WZC00
NOMESCO Finland
Treatment plan or consultation
2.2
12.3
166
988
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.1
12.1
55
196
N02AA59
ATC
codeine, combinations excl. psycholeptics; systemic
2.1
12.1
201
1293
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
2.8
12.1
67
267
J01DA01
ATC
[U] cefalexin
2.2
11.7
273
1986
Y83.9
ICD-10 Finland
Surgical procedure, unspecified as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
5.1
11.6
25
52
D80.3
ICD-10 Finland
Selective deficiency of immunoglobulin G [IgG] subclasses
+∞
11.5
11
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
3.0
11.5
55
202
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
3.3
11.4
45
147
Y88.3
ICD-10 Finland
Sequelae of surgical and medical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
5.4
11.4
23
45
R4110
NOMESCO Finland
Physiotherapy
2.2
11.3
139
793
UGC12
NOMESCO Finland
Flexible bronchoscopy
3.3
11.2
44
143
WX002
NOMESCO Finland
Sedation and analgesia
2.4
11.2
96
472
WZC10
NOMESCO Finland
Written specialist consultation based on a referral from a dentist or a physician
4.1
10.9
31
81
PH2AE
NOMESCO Finland
Ultrasound examination of lower leg veins
2.7
10.8
62
251
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.0
10.7
165
1020
ZXA00
NOMESCO Finland
Right side
2.1
10.7
133
759
QDB05
NOMESCO Finland
Revision of wound of skin of lower limb
5.2
10.6
22
44
WX882
NOMESCO Finland
High dependency care
5.2
10.6
22
44
N03AX16
ATC
[U] pregabalin
2.2
10.6
113
607
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
3.8
10.4
33
93
JN3AD
NOMESCO Finland
Abdominal CT examination
2.6
10.3
66
282
EB1HA
NOMESCO Finland
Panorama tomography of teeth and jaws or similar X-ray examination
2.0
10.2
173
1101
UJF45
NOMESCO Finland
Flexible sigmoidoscopy with biopsy
3.0
10.1
48
175
WX892
NOMESCO Finland
Monitored bed care
3.1
10.1
44
153
H02AB09
ATC
hydrocortisone; systemic
5.1
9.9
21
43
SPAT1255
SPAT
Intravenous administration of medicine
3.5
9.8
35
107
Z2221
NOMESCO Finland
Medical doctor
2.1
9.6
129
753
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.2
9.5
91
466
LWE00
NOMESCO Finland
Reoperation for deep haemorrhage in gynaecological surgery
18.1
9.5
14
8
ZZA00
NOMESCO Finland
Split skin graft
4.7
9.4
22
49
SPAT1083
SPAT
Initiation and monitoring of IV fluid therapy
4.2
9.2
25
63
JA3AT
NOMESCO Finland
Cathetrisation of abdominal cavity with ultrasound guidance
9.4
9.1
18
20
JAH00
NOMESCO Finland
Laparotomy
4.3
9.1
24
59
L04AA01
ATC
[U] ciclosporin
12.9
8.9
15
12
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
1.9
8.8
157
1006
A46
ICD-10 Finland
Erysipelas
2.3
8.8
73
351
EP1AE
NOMESCO Finland
Neck ultrasound examination
3.2
8.7
35
116
J01DB01
ATC
cefalexin; oral
2.3
8.6
335
2774
R60.9
ICD-10 Finland
Oedema, unspecified
3.4
8.6
32
101
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.0
8.4
122
726
ZXE00
NOMESCO Finland
One hour or less
1.9
8.4
167
1106
X58
ICD-10 Finland
Exposure to other specified factors
2.3
8.3
69
332
Z2446
NOMESCO Finland
Social worker
2.9
8.2
39
142
C03DA01
ATC
spironolactone; oral
2.4
8.2
62
286
UJF30
NOMESCO Finland
Ileoscopy through colon
2.5
8.1
53
228
JN4BD
NOMESCO Finland
Extensive body CT
2.5
8.1
53
228
A41.0
ICD-10 Finland
Sepsis due to Staphylococcus aureus
6.5
8.1
20
32
B01AA03
ATC
warfarin; systemic
2.1
8.1
92
501
WX872
NOMESCO Finland
Intensive care
3.5
8.1
28
84
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
2.6
7.9
49
206
B01AB05
ATC
enoxaparin; parenteral
1.9
7.8
138
874
XLA10, ,
NOMESCO Finland
3.6
7.8
26
76
XF400
NOMESCO Finland
ECG with 12 standard connections
2.2
7.8
76
390
JAH01
NOMESCO Finland
Laparoscopy
3.3
7.7
29
92
Y84
ICD-10 Finland
Other medical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
10.3
7.6
14
14
H02AB06
ATC
prednisolone; systemic
1.8
7.6
198
1413
ZX120
NOMESCO Finland
Intravenous
2.5
7.4
50
219
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
3.0
7.4
34
122
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
2.5
7.3
46
194
A06AD11
ATC
lactulose; oral
2.1
7.3
73
377
ZXA05
NOMESCO Finland
Left side
1.9
7.3
113
683
D80.0
ICD-10 Finland
Hereditary hypogammaglobulinaemia
+∞
7.3
7
*
M36.8*D80.1
ICD-10 Finland
Systemic disorders of connective tissue in hypogammaglobulinaemia
+∞
7.3
7
*
D81.6
ICD-10 Finland
Major histocompatibility complex class I deficiency
+∞
7.3
7
*
K92.1
ICD-10 Finland
Melaena
3.1
7.2
30
101
6BA02, ,
NOMESCO Finland
30.6
7.2
9
*
A01AB10
ATC
natamycin; local oral
4.2
7.2
19
47
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
2.8
7.1
36
136
WX110
NOMESCO Finland
Infiltration anesthesia
1.8
7.1
282
2258
M05BA07
ATC
risedronic acid; oral
4.0
7.1
20
52
A02BA02
ATC
ranitidine; systemic
2.0
7.0
93
533
J01CF02
ATC
cloxacillin; systemic
5.6
7.0
19
35
JFA15
NOMESCO Finland
Endoscopic polypectomy in colon
2.9
7.0
33
120
ZXD35
NOMESCO Finland
Usual procedure
3.7
7.0
22
62
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
2.6
6.9
41
168
A07AA02
ATC
nystatin; oral
2.9
6.9
32
115
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
3.3
6.8
26
83
K56.6
ICD-10 Finland
Other and unspecified intestinal obstruction
3.8
6.8
21
58
SPAT1262
SPAT
Handing over of treatment supplies
2.1
6.8
73
387
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
9.6
6.8
13
14
X57
ICD-10 Finland
Unspecified privation
4.4
6.8
17
40
JN3CD
NOMESCO Finland
Abdominal CT examination both without and with contrast
4.0
6.8
19
49
N05CF01
ATC
zopiclone; oral
1.8
6.8
142
942
TGC00
NOMESCO Finland
Bronchial lavation
4.1
6.7
18
45
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
2.2
6.7
60
297
K05.31
ICD-10 Finland
Periodontitis pronounced
2.4
6.7
50
229
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
3.7
6.7
21
59
TQW11
NOMESCO Finland
Vacuum treatment of wound
6.1
6.7
17
29
J02AC01
ATC
fluconazole; systemic
1.7
6.6
166
1157
QDG20
NOMESCO Finland
Operation for chronic ulcer or fistula of skin of lower limb
12.5
6.6
11
9
ZXE13
NOMESCO Finland
Procedure duration 90 to 119 minutes
3.9
6.6
19
50
M05BA04
ATC
alendronic acid; oral
2.5
6.6
43
185
I20.81
ICD-10 Finland
Other angina pectoris stenosed coronary artery
2.6
6.6
38
154
T81.9
ICD-10 Finland
Unspecified complication of procedure
6.4
6.5
16
26
TDM10
NOMESCO Finland
Puncture of maxillary antrum
3.5
6.5
22
65
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
2.4
6.5
44
193
A10AE04
ATC
insulin glargine; parenteral
2.4
6.5
46
206
TPX10
NOMESCO Finland
Implantation of vascular injection port
3.9
6.4
19
51
WX302
NOMESCO Finland
Thoracal epidural anesthesy
3.2
6.4
25
81
ZXM00
NOMESCO Finland
Intraoperative use of ultrasonographic imaging
14.6
6.4
10
7
K80.0
ICD-10 Finland
Calculus of gallbladder with acute cholecystitis
3.5
6.4
22
66
J01MA14
ATC
moxifloxacin; systemic
2.4
6.4
43
188
N02AB03
ATC
fentanyl; nasal, sublingual, transdermal
3.2
6.3
25
82
EBA10
NOMESCO Finland
Operative extraction of tooth
2.3
6.3
48
222
K43.9
ICD-10 Finland
Other and unspecified ventral hernia without obstruction or gangrene
3.3
6.3
24
77
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
2.4
6.3
42
183
NHW10
NOMESCO Finland
Reoperation for deep infection in in surgery of ankle or foot
+∞
6.3
6
*
JAK03
NOMESCO Finland
Laparotomy and peritoneal irrigation
+∞
6.3
6
*
N08.2*D89.80
ICD-10 Finland
Immunoglobulin A (IgA) nephropathy
+∞
6.3
6
*
D12.5
ICD-10 Finland
Benign neoplasm: Sigmoid colon
3.4
6.2
22
67
I50.9
ICD-10 Finland
Heart failure, unspecified
2.0
6.2
71
386
127
Kela drug reimbursment
Transplant complication
7.9
6.2
13
17
GD1AD
NOMESCO Finland
Thorax CT examination
2.8
6.1
31
117
L03AA02
ATC
filgrastim; parenteral
3.7
6.1
19
53
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
6.9
6.1
14
21
WW200
NOMESCO Finland
Immunization
5.3
6.1
17
33
J04AB02
ATC
rifampicin; systemic
10.2
6.1
11
11
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
1.9
6.1
95
574
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
2.0
6.1
66
352
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
5.7
6.1
16
29
J10.1
ICD-10 Finland
Influenza with other respiratory manifestations, seasonal influenza virus identified
6.2
6.1
15
25
L28
ICPC
Limited function/disability (L)
1.9
6.0
84
488

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
29
29
10.70
25.90
3.9
1.9
1249.59
1338.00
e6/l
0.11
22
23
165
904
2.40
15.72
3.6
2.3
2.90
2.93
mg/l
0.06
148
785
91
382
2.79
15.05
2.7
1.7
—
—
—
0
0
25
24
11.03
13.43
3.8
2.0
566.29
583.18
e6/l
0.03
17
17
24
22
11.53
13.20
4.1
2.1
184.06
208.76
e6/l
0.21
18
17
18
8
23.47
13.00
6.3
1.3
633.33
790.88
u/ml
—
18
8
61
229
2.96
12.27
4.5
1.6
1.23
1.65
g/l
0.63
54
210
109
547
2.36
12.20
3.0
2.4
2.36
2.30
g/l
0.51
99
506
115
593
2.32
12.07
3.2
2.4
12.10
12.93
umol/l
0.56
104
551
158
930
2.15
11.96
7.6
4.3
—
—
—
0
0
25
51
5.16
11.84
1.6
1.3
0.28
0.66
g/l
2.20
17
44
99
494
2.33
11.12
3.0
2.1
—
—
—
0
0
23
29
8.34
10.74
1.4
1.2
0.33
0.34
g/l
0.08
14
23
23
29
8.34
10.74
1.4
1.2
1.74
2.86
g/l
1.91
14
23
23
29
8.34
10.74
1.4
1.2
4.93
6.57
g/l
2.26
13
24
101
518
2.27
10.59
3.5
2.4
21.92
22.51
%
0.14
92
488
223
1539
2.01
10.57
8.6
4.7
34.52
35.61
g/l
2.08
214
1451
84
406
2.35
10.07
4.0
2.9
1.87
1.80
%
0.25
77
367
22
30
7.69
9.83
1.4
1.2
—
—
—
0
0
222
1585
1.90
8.96
14.0
6.7
1.21
1.22
mmol/l
0.22
207
1468
26
71
3.85
8.59
3.2
1.2
11.08
10.88
mg/l
0.05
26
64
245
1823
1.88
8.52
9.9
6.1
10.46
12.35
umol/l
2.24
236
1747
211
1500
1.86
8.46
2.5
2.1
96.56
96.08
pmol/l
0.05
122
770
116
685
1.98
8.18
4.7
3.6
177.13
377.61
ng/l
0.69
87
535
235
1747
1.83
7.97
15.1
7.1
1.21
1.22
mmol/l
0.22
204
1509
63
303
2.28
7.54
4.5
2.6
71.82
70.01
e9/l
0.11
43
225
234
1762
1.79
7.36
13.9
5.9
0.62
0.57
e9/l
1.96
206
1499
239
1812
1.79
7.33
14.1
6.4
0.20
0.19
e9/l
0.32
214
1573
234
1766
1.78
7.27
13.9
5.9
0.04
0.04
e9/l
0.09
206
1503
86
477
2.02
7.14
10.4
5.0
1.04
1.06
mmol/l
0.26
79
436
84
465
2.02
7.01
15.7
7.5
103.90
104.58
mmol/l
0.56
84
465
253
1968
1.77
6.94
18.3
9.5
4.57
4.08
e9/l
2.21
227
1707
221
1656
1.75
6.89
14.3
6.0
26.99
27.92
%
0.56
215
1573
235
1794
1.75
6.84
14.0
5.9
2.00
1.98
e9/l
0.06
212
1576
216
1614
1.73
6.76
14.7
6.0
0.60
0.68
%
1.49
209
1507
75
404
2.05
6.73
4.3
2.8
5.05
7.70
umol/l
2.40
66
353
56
269
2.26
6.71
4.8
3.4
94.00
81.56
ng/l
0.51
50
238
219
1649
1.72
6.61
4.7
3.0
152.63
112.82
ug/l
1.43
204
1537
156
1071
1.75
6.56
4.0
2.4
58.78
60.82
u/l
0.11
149
998
215
1622
1.70
6.35
14.7
6.0
8.89
8.77
%
0.20
209
1526
214
1615
1.70
6.29
14.7
6.0
2.84
2.84
%
0.01
208
1514
156
1081
1.73
6.28
7.4
3.9
7.39
7.40
ph
0.61
121
762
96
576
1.88
6.28
6.7
3.3
0.80
0.82
mmol/l
0.89
89
549
71
385
2.03
6.23
11.0
9.2
1.67
0.77
mmol/l
1.20
63
321
163
1146
1.71
6.21
14.8
5.8
—
—
—
0
0
71
387
2.01
6.14
11.1
9.2
7.43
7.42
ph
0.73
42
221
51
246
2.23
6.04
8.7
3.6
7.41
7.42
ph
0.23
44
205
17
45
3.90
5.87
2.2
1.4
—
—
—
0
0
17
45
3.90
5.87
2.2
1.4
—
—
—
0
0
17
45
3.90
5.87
2.2
1.4
—
—
—
0
0
17
45
3.90
5.87
2.2
1.4
—
—
—
0
0
29
113
2.69
5.43
1.2
1.3
—
—
—
0
0
95
594
1.79
5.37
1.9
1.7
1228.20
1218.49
nmol/l
0.03
69
446
28
109
2.69
5.25
1.8
1.3
294.00
305.12
ug/g
0.11
20
69
69
393
1.91
5.23
11.3
9.1
5.31
5.08
kpa
1.32
64
376
69
393
1.91
5.23
11.3
9.1
11.98
12.08
kpa
0.05
64
379
71
410
1.89
5.17
1.9
1.4
—
—
—
0
0
15
41
3.76
4.97
3.1
1.7
22.13
29.26
ng/l
0.32
15
41
29
119
2.55
4.92
2.3
1.9
168.80
310.00
ug/l
1.04
29
112
34
151
2.37
4.88
2.0
2.0
1.64
1.47
g/l
0.41
28
137
40
191
2.22
4.87
1.3
1.3
—
—
—
0
0
302
2581
1.69
4.84
16.1
7.7
84.68
80.58
u/l
0.84
292
2438
46
233
2.10
4.83
1.8
1.2
449.72
375.89
u/ml
0.10
41
213
205
1598
1.58
4.82
25.6
12.9
1.30
1.25
inr
0.67
177
1322
9
10
9.17
4.80
2.3
3.0
0.60
0.61
mmol/l
—
9
10
136
963
1.62
4.79
4.5
3.2
—
0.00
estimate
—
0
5
79
486
1.78
4.68
1.7
1.4
420.00
543.79
titre
0.40
20
116
35
161
2.29
4.65
1.7
1.6
4.29
4.39
iu/ml
—
9
36
59
334
1.90
4.55
15.0
4.4
1.83
1.86
mmol/l
0.02
47
286
116
799
1.64
4.52
3.9
2.8
5.07
5.65
e6/l
0.34
109
737
61
351
1.87
4.47
14.6
4.4
7.37
7.38
ph
0.54
37
203
20
71
2.91
4.45
1.6
3.2
30.60
34.62
umol/l
0.39
15
66
139
1004
1.59
4.45
4.5
3.3
0.37
0.50
e6/l
0.34
112
738
57
324
1.89
4.34
3.3
2.4
37.44
28.81
u/l
0.66
52
266
109
748
1.63
4.29
3.2
1.4
2.11
2.47
g/l
1.09
66
451
19
67
2.93
4.28
4.8
2.8
—
—
—
0
0
45
237
2.01
4.27
3.5
2.8
163.62
203.19
ng/l
0.39
40
218
46
245
1.99
4.23
3.1
2.5
—
—
—
0
0
15
46
3.35
4.23
5.0
2.4
4.85
5.03
e9/l
0.08
15
46
25
103
2.52
4.22
4.8
3.3
1.19
1.67
index
0.35
16
57
54
306
1.88
4.15
22.4
9.1
—
—
—
0
0
40
204
2.07
4.14
8.0
6.8
—
—
—
0
0
22
87
2.62
4.04
1.5
2.0
119.53
124.92
g/l
0.34
15
64
175
1354
1.52
4.03
2.5
2.2
—
—
—
0
0
7
7
10.15
4.02
2.9
1.6
33.29
21.43
%
—
7
7
49
273
1.91
3.97
3.2
2.3
3.20
6.44
ug/l
2.38
40
243
156
1181
1.53
3.96
4.0
3.2
7.17
7.53
mmol/l
0.46
130
1003
109
765
1.58
3.87
2.6
1.8
1.39
1.49
mg/l
0.11
86
610
138
1023
1.53
3.84
1.9
1.7
18.69
21.27
nmol/l
1.34
120
855
193
1536
1.49
3.82
4.1
2.5
79.53
77.68
nmol/l
0.37
173
1389
15
50
3.08
3.73
3.5
2.6
—
—
—
0
0
75
485
1.67
3.69
2.0
1.6
—
—
—
0
0
102
713
1.58
3.66
4.3
3.0
518.71
529.79
mosm/kgh2o
0.22
94
632
12
30
4.09
3.62
4.0
2.6
—
—
—
0
0
152
1162
1.50
3.62
4.9
3.5
22.02
111.33
e6/l
0.93
124
887
142
1073
1.50
3.56
2.5
2.1
178.13
191.05
u/l
0.09
133
1024
61
377
1.73
3.53
2.0
1.6
—
—
—
0
0
141
1066
1.50
3.52
12.0
6.5
—
—
—
0
0
191
1534
1.47
3.52
20.9
11.4
0.00
0.00
e9/l
0.36
156
1247
151
1160
1.48
3.48
4.9
3.0
36.59
30.84
u/l
0.95
144
1106
242
2042
1.47
3.41
10.8
5.2
7.06
6.59
mmol/l
1.22
235
1935
57
350
1.73
3.38
4.4
2.0
340.38
391.89
nmol/l
1.24
52
324
11
28
4.01
3.31
1.4
1.1
—
—
—
0
0
41
231
1.86
3.23
1.1
1.2
—
—
—
0
0
68
444
1.64
3.21
2.4
2.3
171.36
131.43
ug/g
0.43
58
363
167
1329
1.44
3.13
5.8
4.2
156.01
125.75
e6/l
0.10
130
931
145
1124
1.45
3.13
3.6
2.3
—
—
—
0
0
70
464
1.62
3.12
1.5
1.2
—
—
—
0
0
81
560
1.56
3.02
3.6
3.2
2.84
2.70
e6/l
0.06
39
273
33
177
1.94
3.01
11.4
3.8
—
—
—
0
0
9
22
4.16
2.90
3.7
3.1
0.56
0.86
index
—
9
22
16
65
2.52
2.82
1.4
1.3
323.20
198.09
u/ml
—
10
33
139
1088
1.42
2.79
4.0
3.2
1813.18
1338.20
ng/l
0.67
124
930
10
29
3.51
2.71
1.3
1.1
—
—
—
0
0
17
73
2.39
2.69
2.4
1.9
—
—
—
0
0
32
177
1.88
2.69
1.2
1.1
—
—
—
0
0
9
24
3.81
2.68
2.3
3.2
542.67
849.38
mg
—
9
24
190
1584
1.38
2.59
4.4
2.7
—
—
estimate
—
0
0
78
553
1.51
2.59
1.8
1.9
—
—
—
0
0
110
839
1.43
2.51
1.4
1.3
0.98
1.48
u/ml
0.55
28
240
43
266
1.69
2.51
4.7
3.8
1.25
1.23
mmol/l
0.85
37
237
47
298
1.65
2.50
8.0
4.2
1.00
0.85
%
0.21
22
97
111
849
1.43
2.50
5.0
2.6
341.86
342.14
umol/l
0.01
99
744
15
63
2.43
2.49
1.1
1.1
—
—
—
0
0
178
1476
1.37
2.48
4.3
3.5
6.33
6.21
ph
0.67
110
837
10
32
3.18
2.45
1.9
1.5
—
—
—
0
0
39
237
1.72
2.43
2.9
2.6
11.54
12.76
nmol/l
0.39
33
215
6
12
5.06
2.41
2.7
1.3
—
—
—
0
0
15
65
2.36
2.34
1.7
1.4
114.60
151.80
au/ml
—
5
23
23
120
1.97
2.30
7.0
4.2
1866.79
330.06
mg/l
0.48
14
50
44
281
1.64
2.29
7.8
4.2
0.45
0.47
%
0.04
20
83
102
1299
0.71
2.29
3.5
3.2
—
—
—
0
0
7
18
3.94
2.26
1.3
1.1
—
—
—
0
0
44
282
1.63
2.26
8.2
4.4
0.11
0.10
%
0.02
19
80
20
100
2.05
2.25
4.7
4.3
1.51
2.94
ratio
1.12
12
55
39
243
1.67
2.23
1.6
1.5
—
—
—
0
0
15
67
2.29
2.20
2.1
1.6
—
—
—
0
0
46
303
1.59
2.12
1.7
1.4
—
—
—
0
0
29
169
1.77
2.10
2.4
2.3
—
—
—
0
0
59
413
1.50
2.08
1.3
1.4
—
—
—
0
0
9
31
2.95
2.08
1.8
1.9
—
—
—
0
0
8
26
3.12
2.02
1.5
1.2
90.88
107.62
pmol/l
—
8
26
13
57
2.32
1.99
1.1
1.1
—
—
—
0
0
10
39
2.60
1.95
1.1
1.0
—
—
—
0
0
11
45
2.49
1.94
1.5
1.1
1.47
1.40
g/l
0.37
11
39
136
1115
1.33
1.94
4.1
3.2
237.05
50.96
mg/l
0.70
92
709
9
34
2.68
1.87
1.6
1.2
—
—
—
0
0
14
67
2.13
1.78
1.5
1.2
—
—
—
0
0
20
110
1.86
1.76
6.0
4.8
25.16
43.82
mg/l
0.51
13
92
20
110
1.86
1.76
5.9
4.8
42.42
52.48
mg/l
0.29
14
93
12
54
2.26
1.75
1.0
1.3
—
—
—
0
0
43
293
1.52
1.74
8.9
4.6
0.00
0.16
%
0.74
17
74
147
1235
1.30
1.73
4.7
3.3
2.37
2.36
mmol/l
0.88
136
1121
8
180
0.43
1.73
2.8
1.7
—
—
—
0
0
15
75
2.04
1.72
6.3
2.3
63.13
59.34
%
0.52
15
75
19
104
1.87
1.70
1.4
1.2
—
—
—
0
0
91
716
1.35
1.69
1.8
1.7
432.03
6547091.03
pmol/l
0.50
74
611
14
70
2.04
1.61
1.7
1.5
—
—
—
0
0
6
20
3.03
1.58
1.0
3.5
107.17
160.15
nmol/l
—
6
20
135
1134
1.29
1.57
4.8
3.8
20.83
8.97
mg/mmol
1.24
87
696
19
317
0.58
1.53
1.1
1.4
—
—
—
0
0
302
3210
0.76
1.53
5.4
5.1
1.42
1.49
mmol/l
2.49
276
2973
5
15
3.36
1.53
4.0
2.7
—
—
—
0
0
5
15
3.36
1.53
1.4
1.1
—
—
—
0
0
60
452
1.39
1.47
1.5
1.3
—
—
—
0
0
24
149
1.65
1.44
1.4
1.2
—
—
—
0
0
257
2348
1.26
1.44
7.7
4.5
—
3.09
—
0
6
287
3063
0.78
1.43
4.4
4.3
1.43
1.26
mmol/l
3.23
260
2814
92
745
1.30
1.40
9.6
4.7
—
—
—
0
0
11
53
2.11
1.39
1.6
1.5
—
—
—
0
0
21
127
1.69
1.39
1.2
1.1
—
—
—
0
0
11
54
2.07
1.34
2.1
1.5
—
—
—
0
0
15
83
1.84
1.33
1.5
1.3
—
—
—
0
0
128
1089
1.26
1.32
3.9
3.1
—
—
—
0
0
57
434
1.37
1.32
5.3
3.0
5.12
5.57
e9/l
0.18
51
383
311
3274
0.78
1.28
6.1
5.9
2.53
2.71
mmol/l
3.22
285
3035
9
44
2.07
1.27
2.1
1.9
30.89
32.30
pg
—
9
44
9
44
2.07
1.27
1.1
1.3
—
—
—
0
0
153
1334
1.24
1.26
5.8
3.8
28.13
41.23
ng/l
1.30
112
952
8
36
2.25
1.25
1.1
1.1
—
—
—
0
0
45
334
1.39
1.22
2.6
2.2
0.00
0.04
estimate
0.49
11
69
17
101
1.71
1.21
1.8
1.6
328.00
296.49
mu/l
0.26
17
93
17
102
1.70
1.18
1.3
1.2
—
—
—
0
0
78
946
0.78
1.15
1.5
1.4
—
—
—
0
0
206
1865
1.22
1.15
5.4
3.9
0.00
4.19
estimate
0.50
47
388
17
103
1.68
1.14
1.5
1.3
—
—
—
0
0
7
30
2.36
1.13
3.9
3.1
—
—
—
0
0
40
296
1.39
1.11
7.2
3.6
7.39
7.32
ph
0.65
33
201
207
1882
1.21
1.09
5.4
4.0
0.00
0.02
estimate
0.80
44
362
7
33
2.14
1.06
1.3
1.1
—
—
—
0
0
39
293
1.37
1.01
1.2
1.2
—
—
—
0
0
7
35
2.02
1.00
4.3
3.2
—
—
—
0
0
15
92
1.65
0.98
2.2
1.9
2.28
5.23
iu/l
—
6
37
0
32
0.00
0.95
0.0
1.0
—
300.05
—
0
20
9
51
1.78
0.95
2.0
1.6
—
—
—
0
0
7
37
1.91
0.94
1.3
1.1
—
—
—
0
0
5
102
0.48
0.90
1.0
1.2
1.57
1.57
g/l
—
5
102
309
3223
0.82
0.89
5.3
5.2
4.42
4.67
mmol/l
4.38
289
3004
10
56
1.81
0.88
1.8
1.3
0.16
0.37
nmol/l
—
10
42
6
31
1.95
0.84
3.0
1.0
—
—
—
0
0
5
98
0.50
0.79
1.0
1.1
—
0.65
—
0
17
5
24
2.10
0.74
1.0
1.3
—
—
—
0
0
5
25
2.01
0.73
1.0
1.2
—
8.39
—
0
8
5
25
2.01
0.73
5.2
2.6
—
—
—
0
0
44
538
0.80
0.71
2.9
3.2
1.23
0.75
ug/l
0.32
31
338
7
40
1.76
0.71
4.1
6.1
9.43
11.26
%
—
7
40
15
101
1.50
0.71
1.6
1.4
—
—
—
0
0
199
1850
1.15
0.70
5.5
3.9
0.00
0.00
estimate
-0.00
44
376
277
2638
1.16
0.69
5.5
4.3
14.72
14.75
pmol/l
0.06
260
2414
24
179
1.36
0.68
3.0
2.2
0.00
0.02
estimate
—
7
58
348
3568
0.81
0.67
47.6
24.1
254.86
251.25
e9/l
0.42
343
3507
19
259
0.72
0.67
1.9
1.8
3.45
3.47
mmol/l
0.04
14
195
77
669
1.19
0.65
1.4
1.3
45.09
34.23
iu/ml
0.21
35
202
5
29
1.73
0.64
1.0
1.3
—
—
—
0
0
153
1405
1.14
0.63
2.1
2.0
1.49
1.36
mmol/l
1.17
119
1187
236
2233
1.14
0.61
4.8
3.2
61.24
46.17
u/l
2.21
221
2116
15
105
1.45
0.61
1.6
1.4
—
—
—
0
0
0
20
0.00
0.60
0.0
1.3
—
7.34
—
0
15
34
273
1.27
0.60
7.4
3.7
—
—
—
0
0
0
22
0.00
0.59
0.0
1.0
—
—
—
0
0
7
115
0.60
0.58
12.7
10.8
—
—
—
0
0
18
132
1.38
0.58
1.7
1.4
0.30
0.28
mg/l
—
9
54
8
54
1.49
0.57
1.5
1.9
—
—
—
0
0
6
36
1.68
0.57
1.8
1.3
—
—
—
0
0
8
55
1.46
0.56
1.1
1.2
—
—
—
0
0
15
107
1.42
0.56
1.6
1.4
—
—
—
0
0
15
107
1.42
0.56
1.6
1.4
—
—
—
0
0
338
3463
0.85
0.55
22.1
11.6
26.82
25.07
u/l
1.37
332
3370
6
38
1.59
0.54
1.5
1.0
—
—
—
0
0
6
38
1.59
0.54
1.8
3.6
4.07
3.12
nmol/l
—
6
38
6
39
1.55
0.53
2.0
2.2
—
—
—
0
0
308
3174
0.87
0.52
6.0
5.1
6.06
5.92
mmol/l
1.15
287
2925
299
3087
0.88
0.52
7.5
6.4
40.59
39.16
mmol/mol
1.82
287
2899
9
65
1.39
0.51
1.6
1.4
—
—
—
0
0
81
903
0.87
0.50
5.9
5.5
4.74
3.09
ug/l
0.42
70
807
18
136
1.34
0.50
2.1
2.8
—
—
—
0
0
7
106
0.65
0.49
1.1
1.2
0.88
0.89
g/l
—
7
106
7
45
1.57
0.49
1.3
1.3
—
—
nmol/l
—
0
0
7
47
1.50
0.48
3.1
2.9
3.50
85.98
u/ml
—
7
47
7
47
1.50
0.48
1.3
1.1
—
—
—
0
0
69
613
1.15
0.46
1.4
1.3
21.02
12.80
u/ml
0.27
23
234
91
827
1.13
0.44
5.4
4.1
1.02
1.02
kg/l
0.71
76
550
5
32
1.57
0.42
2.0
2.3
—
—
—
0
0
5
33
1.52
0.41
1.4
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
1.4
—
—
—
0
0
5
34
1.48
0.40
1.4
1.1
—
—
—
0
0
336
3287
1.14
0.40
35.4
15.9
26.81
23.82
mg/l
0.92
304
2703
0
19
0.00
0.39
0.0
1.2
—
74.53
—
0
19
10
72
1.40
0.37
2.0
2.9
7.75
9.07
pmol/l
—
10
72
42
367
1.16
0.36
4.9
4.0
3.61
38.03
ug/l
0.98
32
311
6
44
1.37
0.34
1.3
1.2
—
—
—
0
0
18
145
1.25
0.34
2.4
2.0
—
—
—
0
0
332
3380
0.90
0.32
28.2
14.0
—
—
—
0
0
40
355
1.14
0.29
1.8
1.7
—
—
—
0
0
14
173
0.80
0.29
1.1
1.1
—
—
—
0
0
5
74
0.67
0.26
2.2
2.4
59.40
46.00
ug/min
—
5
41
9
74
1.22
0.25
1.3
2.1
—
—
—
0
0
6
81
0.74
0.24
2.2
4.0
—
—
—
0
0
13
106
1.23
0.23
1.6
1.4
—
—
—
0
0
5
38
1.32
0.23
6.6
2.3
56.60
55.39
%
—
5
33
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
8.37
—
0
10
0
12
0.00
0.21
0.0
1.3
—
0.00
—
0
12
0
13
0.00
0.21
0.0
1.0
—
12.38
—
0
5
6
48
1.25
0.20
1.7
1.2
—
—
—
0
0
6
49
1.23
0.20
1.3
1.5
—
—
—
0
0
37
340
1.10
0.17
1.5
1.5
—
—
—
0
0
311
3071
1.06
0.15
7.1
5.4
2.05
1.90
mu/l
0.38
290
2824
7
64
1.10
0.08
1.0
1.1
—
—
—
0
0
7
64
1.10
0.08
1.0
1.1
—
—
—
0
0
24
254
0.94
0.06
2.0
1.8
—
—
—
0
0
76
741
1.03
0.06
3.9
2.7
2.49
2.45
mmol/l
1.43
65
669
26
248
1.05
0.05
1.6
1.2
50.37
167.36
u/ml
4.09
11
100
107
1053
1.02
0.05
6.8
4.1
0.00
0.01
estimate
0.50
44
349
142
1403
1.02
0.04
5.7
3.8
0.00
0.02
estimate
1.15
38
318
30
290
1.04
0.03
2.3
2.4
5.89
6.13
ph
0.74
19
188
33
339
0.97
0.02
2.6
1.5
—
—
—
0
0
10
94
1.07
0.01
1.0
1.1
—
—
—
0
0
102
1015
1.01
0.00
5.1
3.3
0.00
0.00
estimate
0.50
37
302
0
7
0.00
0.00
0.0
1.0
—
5.54
—
0
7
0
9
0.00
0.00
0.0
1.1
—
38.44
—
0
9
0
7
0.00
0.00
0.0
7.6
—
4.96
—
0
7
0
7
0.00
0.00
0.0
1.3
—
1.85
—
0
7
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
6
60
1.00
0.00
1.3
1.2
723.92
19.57
u/l
—
6
54
5
51
0.98
-0.00
2.0
1.5
35.36
28.98
u/l
—
5
44
0
5
0.00
-0.00
0.0
2.0
—
59.20
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
19.18
—
0
6
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint D3_COMBIMMUDEF and mortality.

Females

Parameter HR [95% CI] p-value
D3_COMBIMMUDEF 1.981 [1.72, 2.29] < 0.001
Birth year 0.995 [0.99, 1.0] 0.207

During the follow-up period (1.1.1998 — 31.12.2019), 454 out of 1489 females with D3_COMBIMMUDEF died.

Males

Parameter HR [95% CI] p-value
D3_COMBIMMUDEF 2.256 [1.92, 2.65] < 0.001
Birth year 0.986 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 516 out of 1183 males with D3_COMBIMMUDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_COMBIMMUDEF.

N-year risk Females Males
1 0.171% 0.394%
5 1.141% 2.075%
10 2.912% 5.699%
15 5.574% 11.202%
20 9.77% 18.871%

Relationships between endpoints

Index endpoint: D3_COMBIMMUDEF – Combined immunodeficiencies

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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